ALG3, ALG3 alpha-1,3- mannosyltransferase, 10195

N. diseases: 61; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 Biomarker group BEFREE Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies. 29547901 2018
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE Based on molecular studies, the 27 CDG patients were classified into different subtypes: ALG9-CDG (8 patients, 29.5%), ALG3-CDG (7 patients, 26%), COG6-CDG (7 patients, 26%), MGAT2-CDG (3 patients, 11%), SLC35A2-CDG (1 patient), and PMM2-CDG (1 patient). 28742265 2017
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE We add four new biochemically confirmed variants to the list of ALG3-CDG inducing variants: c.350G>C (p.R117P), c.1263G>A (p.W421*), c.1037A>G (p.N346S), and the intron variant c.296+4A>G. 31067009 2019
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE Fifteen patients were included: 9 with PMM2-CDG and 6 with non-PMM2-CDG (one ALG3-CDG, one ALG9-CDG, two ALG11-CDG, one MPDU1-CDG and one ATP6V0A2-CDG). 28122681 2017
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 Biomarker group BEFREE The patients showed some clinical features previously unreported in ALG3-CDG, such as bone dysplasia, cataract, corneal opacities, and pons hypoplasia. 26126960 2015
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.060 GeneticVariation group BEFREE Furthermore, our sibling pair highlights the intrafamilial variability, the natural clinical course of ALG3-CDG (CDG-Id) and the benefit of reassessing patients with undiagnosed and complex syndromes, particularly when they present with neurological deterioration. 23791010 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE We studied the mRNA expressions of PPFIA family members and ALG3 in a variety of tumor types compared with the normal controls using the Oncomine database along with meta-analyses of their expressions in HNSCC cancer cell line. 30805892 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Generally, our data suggest the involvement of hNOT-1/ALG3-1 in various molecular contexts determining essential processes associated with distinct cellular machineries and related to various pathologies, such as cancer, viral infections, neuronal and immunological disorders and CDG. 29547901 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE The staining intensity of ALG3 was significantly correlated to the tumor grade (grades 2-3 versus 1, p<0.05). 29799832 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE We studied the mRNA expressions of PPFIA family members and ALG3 in a variety of tumor types compared with the normal controls using the Oncomine database along with meta-analyses of their expressions in HNSCC cancer cell line. 30805892 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE Generally, our data suggest the involvement of hNOT-1/ALG3-1 in various molecular contexts determining essential processes associated with distinct cellular machineries and related to various pathologies, such as cancer, viral infections, neuronal and immunological disorders and CDG. 29547901 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE We studied the mRNA expressions of PPFIA family members and ALG3 in a variety of tumor types compared with the normal controls using the Oncomine database along with meta-analyses of their expressions in HNSCC cancer cell line. 30805892 2019
CUI: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		0.010 GeneticVariation group LHGDN Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. 16006436 2005
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.100 Biomarker phenotype HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0424230
Disease: Motor retardation
Motor retardation 		0.100 Biomarker phenotype HPO
CUI: C0554101
Disease: Villous atrophy
Villous atrophy 		0.100 Biomarker phenotype HPO